Phenotype details |
polyhydramnios; IUGR; birth head circumference of 0SD; weight at 2.5y of +0.5SD; height at 2.5y of +1SD; head circumference at 2.5y of +1SD; cayler facial asymmetry; unilateral microtia; unilateral auditory canal atresia/stenosis; unilateral hearing loss; ASD; VSD; unilateral thumb hypoplasia; oesophageal atresia type C; abnormal ossicles and semicircular canals; agenesis of first cervical vertebrae; kyphoscoliosis and sacral dimple; no seizures |